Found: 31
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Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes.
- Published in:
- Journal of Gene Medicine, 2008, v. 10, n. 2, p. 217, doi. 10.1002/jgm.1140
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- Publication type:
- Article
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
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- Publication type:
- Article
Limb Girdle Muscular Dystrophy Type 2A (CAPN3): Mapping Using Allelic Association.
- Published in:
- Human Heredity, 1998, v. 48, n. 6, p. 333, doi. 10.1159/000022825
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- Publication type:
- Article
Mapping Using Linkage Disequilibrium Estimates: A Comparative Study.
- Published in:
- Human Heredity, 1997, v. 47, n. 4, p. 237, doi. 10.1159/000154418
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- Publication type:
- Article
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 694, doi. 10.1093/hmg/ddq515
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- Publication type:
- Article
Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.
- Published in:
- Nature Communications, 2015, v. 6, n. 5, p. 7205, doi. 10.1038/ncomms8205
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- Publication type:
- Article
Contrast agent-enhanced magnetic resonance imaging of skeletal muscle damage in animal models of muscular dystrophy.
- Published in:
- Magnetic Resonance in Medicine, 2000, v. 44, n. 4, p. 655, doi. 10.1002/1522-2594(200010)44:4<655::AID-MRM22>3.0.CO;2-T
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- Publication type:
- Article
Dystrophies musculaires congénitales.
- Published in:
- Médecine Sciences, 2015, v. 31, p. 29, doi. 10.1051/medsci/201531s307
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- Publication type:
- Article
Syndrome myasthénique congénital.
- Published in:
- Médecine Sciences, 2015, v. 31, p. 28, doi. 10.1051/medsci/201531s307
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- Publication type:
- Article
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder.
- Published in:
- 2021
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- Publication type:
- Case Study
Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023094
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- Publication type:
- Article
Editorial: Extracellular matrix in homeostasis and cancer.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1107969
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- Publication type:
- Article
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 411, doi. 10.1002/humu.20879
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- Publication type:
- Article
Un nouveau groupe de travail recherche Filnemus: GT-MEC.
- Published in:
- Médecine Sciences, 2023, v. 39, p. 66, doi. 10.1051/medsci/2023140
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- Publication type:
- Article
Hommage à Jeanette Erdmann.
- Published in:
- 2023
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- Publication type:
- Obituary
Vers une meilleure détection des variants introniques et autres anomalies d'épissage complexes dans les dystrophinopathies.
- Published in:
- Médecine Sciences, 2022, v. 38, p. 39, doi. 10.1051/medsci/2022182
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- Publication type:
- Article
L'intérêt d'inclure l'analyse SMA dans les panels NGS de maladies neuromusculaires.
- Published in:
- Médecine Sciences, 2020, v. 36, p. 51, doi. 10.1051/medsci/2020209
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- Publication type:
- Article
Génétique : Une mutation du gène TNPO3 impliquée dans la LGMD D2 confère une protection à l'infection par le VIH-1.
- Published in:
- Médecine Sciences, 2019, v. 35, p. 45, doi. 10.1051/medsci/2019240
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- Publication type:
- Article
Une mutation du gène TNPO3 impliquée dans la LGMD D2 confère une protection à l’infection par le VIH-1.
- Published in:
- Médecine Sciences, 2019, v. 35, p. 45, doi. 10.1051/medsci/2019240
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- Publication type:
- Article
Muscle Membrane Serendipity conference : Past, Present, and Future Conference.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 67, doi. 10.1051/medsci/201733s116
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- Publication type:
- Article
Intérêt du NGS dans un cas atypique de LGMD liée à l'alpha-dystroglycane.
- Published in:
- Médecine Sciences, 2017, v. 33, p. 57, doi. 10.1051/medsci/201733s112
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- Publication type:
- Article
Natural history of pulmonary function in collagen VI-related myopathies.
- Published in:
- 2013
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- Publication type:
- journal article
Selenoprotein N in skeletal muscle: from diseases to function.
- Published in:
- Journal of Molecular Medicine, 2012, v. 90, n. 10, p. 1095, doi. 10.1007/s00109-012-0896-x
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- Publication type:
- Article
A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
- Published in:
- EMBO Reports, 2006, v. 7, n. 4, p. 450, doi. 10.1038/sj.embor.7400648
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- Publication type:
- Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
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- Publication type:
- Article
Two novel COLVI long chains in zebrafish that are essential for muscle development.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6624, doi. 10.1093/hmg/ddv368
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- Publication type:
- Article
Gènètique : Des variants récessifs du gène COL25A1 comme nouvelle cause d'arthrogrypose multiple congénitale avec dysinnervation des nerfs crâniens oculaires.
- Published in:
- 2022
- By:
- Publication type:
- Book Review
Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy.
- Published in:
- Antioxidants, 2020, v. 9, n. 3, p. 244, doi. 10.3390/antiox9030244
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- Publication type:
- Article
Animal models for muscular dystrophy: valuable tools for the development of therapies.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2459
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- Publication type:
- Article
Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin α2-Chain.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 747, doi. 10.1093/hmg/6.5.747
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- Publication type:
- Article
Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 2, p. 285
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- Publication type:
- Article